CPSQ3
MCID: CRB095
MIFTS: 17

Cerebral Palsy, Spastic Quadriplegic, 3 (CPSQ3)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Cerebral Palsy, Spastic Quadriplegic, 3

MalaCards integrated aliases for Cerebral Palsy, Spastic Quadriplegic, 3:

Name: Cerebral Palsy, Spastic Quadriplegic, 3 58 6
Cpsq3 58 76
Cerebral Palsy, Spastic Quadriplegic 3 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
one consanguineous jordanian family with 4 affected sibs has been reported (last curated june 2016)


HPO:

33
cerebral palsy, spastic quadriplegic, 3:
Onset and clinical course variable expressivity infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cerebral Palsy, Spastic Quadriplegic, 3

UniProtKB/Swiss-Prot : 76 Cerebral palsy, spastic quadriplegic 3: A form of cerebral palsy, a group of non-progressive disorders of movement and/or posture resulting from defects in the developing central nervous system. CPSQ3 is an autosomal recessive neurodevelopmental disorder characterized by variable spasticity and cognitive impairment.

MalaCards based summary : Cerebral Palsy, Spastic Quadriplegic, 3, also known as cpsq3, is related to spastic paraplegia 50, autosomal recessive. An important gene associated with Cerebral Palsy, Spastic Quadriplegic, 3 is ADD3 (Adducin 3). Related phenotypes are seizures and nystagmus

Description from OMIM: 617008

Related Diseases for Cerebral Palsy, Spastic Quadriplegic, 3

Diseases in the Cerebral Palsy, Spastic Quadriplegic, 1 family:

Cerebral Palsy, Spastic Quadriplegic, 2 Cerebral Palsy, Spastic Quadriplegic, 3

Diseases related to Cerebral Palsy, Spastic Quadriplegic, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 50, autosomal recessive 11.7

Symptoms & Phenotypes for Cerebral Palsy, Spastic Quadriplegic, 3

Human phenotypes related to Cerebral Palsy, Spastic Quadriplegic, 3:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 seizures 33 occasional (7.5%) HP:0001250
2 nystagmus 33 HP:0000639
3 dysphagia 33 HP:0002015
4 abnormal pyramidal sign 33 HP:0007256
5 global developmental delay 33 HP:0001263
6 microcephaly 33 HP:0000252
7 cognitive impairment 33 HP:0100543
8 spastic tetraplegia 33 HP:0002510
9 spastic diplegia 33 HP:0001264
10 supranuclear gaze palsy 33 HP:0000605
11 exotropia 33 HP:0000577
12 poor speech 33 HP:0002465

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
strabismus
supranuclear gaze palsy
exotropia

Neurologic Central Nervous System:
global developmental delay
cognitive impairment
spastic diplegia
poor speech
spastic quadriplegia
more
Abdomen Gastrointestinal:
dysphagia

Head And Neck Head:
microcephaly, borderline

Clinical features from OMIM:

617008

Drugs & Therapeutics for Cerebral Palsy, Spastic Quadriplegic, 3

Search Clinical Trials , NIH Clinical Center for Cerebral Palsy, Spastic Quadriplegic, 3

Genetic Tests for Cerebral Palsy, Spastic Quadriplegic, 3

Anatomical Context for Cerebral Palsy, Spastic Quadriplegic, 3

Publications for Cerebral Palsy, Spastic Quadriplegic, 3

Articles related to Cerebral Palsy, Spastic Quadriplegic, 3:

# Title Authors Year
1
Mutations in γ adducin are associated with inherited cerebral palsy. ( 23836506 )
2013

Variations for Cerebral Palsy, Spastic Quadriplegic, 3

UniProtKB/Swiss-Prot genetic disease variations for Cerebral Palsy, Spastic Quadriplegic, 3:

76
# Symbol AA change Variation ID SNP ID
1 ADD3 p.Gly367Asp VAR_076996 rs564185858

ClinVar genetic disease variations for Cerebral Palsy, Spastic Quadriplegic, 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ADD3 NM_016824.4(ADD3): c.1100G> A (p.Gly367Asp) single nucleotide variant Pathogenic rs564185858 GRCh37 Chromosome 10, 111882007: 111882007
2 ADD3 NM_016824.4(ADD3): c.1100G> A (p.Gly367Asp) single nucleotide variant Pathogenic rs564185858 GRCh38 Chromosome 10, 110122249: 110122249

Expression for Cerebral Palsy, Spastic Quadriplegic, 3

Search GEO for disease gene expression data for Cerebral Palsy, Spastic Quadriplegic, 3.

Pathways for Cerebral Palsy, Spastic Quadriplegic, 3

GO Terms for Cerebral Palsy, Spastic Quadriplegic, 3

Sources for Cerebral Palsy, Spastic Quadriplegic, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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